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Intellectual Disability and Autism Spectrum Disorders: Causal Genes and Molecular Mechanisms

机译:智力障碍和自闭症谱系障碍:因果基因和分子机制

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摘要

Intellectual disability (ID) and Autism Spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3-5% of the population. Additionally, they can be found together in the same individual thereby complicating treatment.The causative factors (genes, epigenetic and environmental) are quite varied and likely interact so as to further complicate the assessment of an individual patient. Nonetheless, much valuable information has been gained by identifying candidate genes for ID or ASD. Understanding the etiology of either ID or ASD is of utmost importance for families. It allows a determination of the risk of recurrence, the possibility of other comorbidity medical problems, the molecular and cellular nature of the pathobiology and hopefully potential therapeutic approaches.
机译:智力障碍(ID)和自闭症谱系障碍(ASD)是人类中最常见的发育障碍。加在一起,它们影响人口的3-5%。此外,它们可以在同一个人中一起发现,从而使治疗复杂化。病因(基因,表观遗传和环境)相差很大,并且可能相互作用,从而使对单个患者的评估更加复杂。尽管如此,通过鉴定ID或ASD的候选基因已经获得了许多有价值的信息。了解ID或ASD的病因对家庭至关重要。它可以确定复发风险,其他合并症医学问题的可能性,病理生物学的分子和细胞性质以及希望的潜在治疗方法。

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